LYRM7

Summary

LYRM7 (LYR motif containing 7, HGNC:28072) is a protein-coding gene on chromosome 5q23.3-q31.1, encoding Complex III assembly factor LYRM7 (Q5U5X0). Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex.

Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 90624 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 7
• Clinical variants (ClinVar): 100 total — 9 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 48
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_181705

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28072
Approved symbol	LYRM7
Name	LYR motif containing 7
Location	5q23.3-q31.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20796, MZM1L
Ensembl gene	ENSG00000186687
Ensembl biotype	protein_coding
OMIM	615831
Entrez	90624

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000379380, ENST00000507584, ENST00000510516, ENST00000521227, ENST00000855898, ENST00000855899, ENST00000931592, ENST00000931593, ENST00000931594

RefSeq mRNA: 2 — MANE Select: NM_181705 NM_001293735, NM_181705

CCDS: CCDS4148, CCDS78057

Canonical transcript exons

ENST00000379380 — 5 exons

Exon	Start	End
ENSE00001333646	131187028	131187109
ENSE00001333649	131182229	131182299
ENSE00001333653	131180095	131180167
ENSE00001521060	131199531	131205428
ENSE00002039036	131170944	131171038

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8240 / max 344.4867, expressed in 1768 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58389	14.5716	1768
58388	0.1547	51
58390	0.0978	33

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.01	gold quality
vastus lateralis	UBERON:0001379	97.58	gold quality
deltoid	UBERON:0001476	97.34	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.25	gold quality
quadriceps femoris	UBERON:0001377	96.95	gold quality
biceps brachii	UBERON:0001507	96.82	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.44	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.06	gold quality
pons	UBERON:0000988	96.03	gold quality
tibialis anterior	UBERON:0001385	95.78	gold quality
myocardium	UBERON:0002349	95.70	gold quality
body of tongue	UBERON:0011876	95.44	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.43	gold quality
heart right ventricle	UBERON:0002080	95.41	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.40	gold quality
buccal mucosa cell	CL:0002336	95.28	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.92	gold quality
upper arm skin	UBERON:0004263	94.90	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.51	gold quality
inferior vagus X ganglion	UBERON:0005363	94.49	gold quality
skeletal muscle tissue	UBERON:0001134	94.26	gold quality
ventral tegmental area	UBERON:0002691	93.95	gold quality
parietal lobe	UBERON:0001872	93.80	gold quality
superior vestibular nucleus	UBERON:0007227	93.80	gold quality
tongue	UBERON:0001723	93.77	gold quality
medulla oblongata	UBERON:0001896	93.72	gold quality
subthalamic nucleus	UBERON:0001906	93.67	gold quality
entorhinal cortex	UBERON:0002728	93.67	gold quality
postcentral gyrus	UBERON:0002581	93.50	gold quality
superior surface of tongue	UBERON:0007371	93.33	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	93.85
E-ANND-3	yes	5.58
E-MTAB-7303	no	35.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

215 targeting LYRM7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy. (PMID:24014394)
• In multifocal cavitating leukoencephalopathy patients, LYRm7 mutations were identified associated with distinct MRI appearances. (PMID:26912632)
• The authors identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy. (PMID:28694194)
• TNF-alpha induced NF-kappaB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer. (PMID:38104742)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lyrm7	ENSDARG00000079815
mus_musculus	Lyrm7	ENSMUSG00000020268
rattus_norvegicus	Lyrm7	ENSRNOG00000045961

Protein

Protein identifiers

Complex III assembly factor LYRM7 — Q5U5X0 (reviewed: Q5U5X0)

Alternative names: LYR motif-containing protein 7

All UniProt accessions (3): Q5U5X0, D6R994, D6RBV5

UniProt curated annotations — full annotation on UniProt →

Function. Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane.

Subunit / interactions. Interacts with UQCRFS1.

Subcellular location. Mitochondrion matrix.

Disease relevance. Mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) [MIM:615838] A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the complex I LYR family.

RefSeq proteins (2): NP_001280664, NP_859056* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008011	Complex1_LYR_dom	Domain
IPR045298	Complex1_LYR_LYRM7	Domain
IPR050435	MZM1/LYRM7	Family

Pfam: PF05347

UniProt features (4 total): chain 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5U5X0-F1	91.70	0.75

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 60

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9865881	Complex III assembly
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-611105	Respiratory electron transport

MSigDB gene sets: 231 (showing top): GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_PROTEIN_MATURATION, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_PROTEIN_FOLDING, FISCHER_DREAM_TARGETS, GOBP_CELLULAR_RESPIRATION, GOCC_MITOCHONDRIAL_MATRIX, NUYTTEN_NIPP1_TARGETS_DN, GEORGES_TARGETS_OF_MIR192_AND_MIR215, HORIUCHI_WTAP_TARGETS_UP, GOCC_ORGANELLE_ENVELOPE, WHITFIELD_CELL_CYCLE_S, GABRIELY_MIR21_TARGETS

GO Biological Process (3): mitochondrial respiratory chain complex III assembly (GO:0034551), cellular respiration (GO:0045333), protein folding (GO:0006457)

GO Molecular Function (2): protein folding chaperone (GO:0044183), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Respiratory electron transport	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
respiratory chain complex III assembly	1
mitochondrial respiratory chain complex assembly	1
energy derivation by oxidation of organic compounds	1
cellular process	1
protein maturation	1
molecular_function	1
protein folding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

1610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LYRM7	UQCRFS1	P47985	864
LYRM7	TTC19	Q6DKK2	806
LYRM7	BCS1L	Q9Y276	759
LYRM7	HSCB	Q8IWL3	744
LYRM7	SDHAF1	A6NFY7	728
LYRM7	UQCC1	Q9NVA1	721
LYRM7	UQCC3	Q6UW78	719
LYRM7	LYRM1	O43325	683
LYRM7	ETFRF1	Q6IPR1	673
LYRM7	LYRM4	Q9HD34	667
LYRM7	LYRM9	A8MSI8	641
LYRM7	LYRM2	Q9NU23	635
LYRM7	SDHAF3	Q9NRP4	634
LYRM7	UQCC2	Q9BRT2	621
LYRM7	NDUFAB1	O14561	568

IntAct

53 interactions, top by confidence:

A	B	Type	Score
UQCRFS1	LYRM7	psi-mi:“MI:0915”(physical association)	0.790
LYRM7	UQCRFS1	psi-mi:“MI:0915”(physical association)	0.790
HSCB	HSPA9	psi-mi:“MI:0914”(association)	0.740
HSCB	LYRM7	psi-mi:“MI:0915”(physical association)	0.700
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
LYRM7	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
SAT1	LYRM7	psi-mi:“MI:0915”(physical association)	0.560
ARRB1	SAG	psi-mi:“MI:0914”(association)	0.530
UQCRFS1	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
MCEE	CLUH	psi-mi:“MI:0914”(association)	0.530
LYRM7	HSPA9	psi-mi:“MI:0914”(association)	0.460
UQCRFS1	HSPA9	psi-mi:“MI:0914”(association)	0.460
HSCB	NDUFS8	psi-mi:“MI:0914”(association)	0.460
PCNA	LYRM7	psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
TRMT61B		psi-mi:“MI:0914”(association)	0.350

BioGRID (77): LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), UQCRFS1 (Affinity Capture-MS), NDUFAB1 (Affinity Capture-MS), LYRM7 (Affinity Capture-MS)

ESM2 similar proteins: A0JPA6, A1C9A5, A1D9R4, A2R2Q4, A3LNG8, A4DA73, A5DH70, A5PLG0, A9UL63, B0YEJ3, B4F7A1, B5FZA8, B5X5U9, B5XD90, B6GWX1, B8JLQ0, B8MP27, C4Y4R9, C5DEI4, C9SBR9, O46098, P56556, P82116, Q02366, Q0CVW0, Q0MQA3, Q0MQA4, Q0MQA5, Q0P574, Q0UIG9, Q0VCG0, Q2M2S9, Q4QQY2, Q4SQJ2, Q4WHK3, Q5AX36, Q5BBH7, Q5REC3, Q5U5X0, Q5XIY4

Diamond homologs: A0JPA6, A5PLG0, B4F7A1, Q2M2S9, Q4QQY2, Q4SQJ2, Q5REC3, Q5U5X0, Q9DA03, Q9GPS1, A1C9A5, C5MJD6, Q5A7N3, Q6BQH4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

100 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	5
Uncertain significance	30
Likely benign	26
Benign	15

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
135664	NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn)	Pathogenic
1907936	NM_181705.4(LYRM7):c.23del (p.Leu8fs)	Pathogenic
223134	NM_181705.4(LYRM7):c.244+5dup	Pathogenic
223135	NM_181705.4(LYRM7):c.190TTA[3] (p.Leu66dup)	Pathogenic
223136	NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter)	Pathogenic
223137	NM_181705.4(LYRM7):c.37del (p.Thr13fs)	Pathogenic
2575314	NM_181705.4(LYRM7):c.245-1G>A	Pathogenic
3246575	NC_000005.9:g.(?130515768)(130515880_?)del	Pathogenic
3660807	NM_181705.4(LYRM7):c.153_154del (p.Lys51fs)	Pathogenic
1510503	NM_181705.4(LYRM7):c.162+2T>A	Likely pathogenic
1712258	NM_181705.4(LYRM7):c.309del (p.Lys103fs)	Likely pathogenic
3776779	NM_181705.4(LYRM7):c.19-3C>G	Likely pathogenic
4310640	NM_181705.4(LYRM7):c.162+1G>A	Likely pathogenic
638440	NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)	Likely pathogenic

SpliceAI

1042 predictions. Top by Δscore:

Variant	Effect	Δscore
5:131180165:AAGG:A	donor_loss	1.0000
5:131180166:AGGT:A	donor_loss	1.0000
5:131180167:GGTA:G	donor_loss	1.0000
5:131180168:G:GG	donor_gain	1.0000
5:131180169:T:G	donor_loss	1.0000
5:131182224:TGTA:T	acceptor_loss	1.0000
5:131182225:GTAG:G	acceptor_loss	1.0000
5:131182226:TA:T	acceptor_loss	1.0000
5:131182227:A:AG	acceptor_gain	1.0000
5:131182228:G:GT	acceptor_gain	1.0000
5:131182228:GC:G	acceptor_gain	1.0000
5:131182228:GCA:G	acceptor_gain	1.0000
5:131199595:GCAA:G	donor_gain	1.0000
5:131199598:A:AG	donor_gain	1.0000
5:131180092:CAG:C	acceptor_loss	0.9900
5:131180093:A:C	acceptor_loss	0.9900
5:131180094:G:A	acceptor_loss	0.9900
5:131180164:GAAG:G	donor_gain	0.9900
5:131180166:AG:A	donor_gain	0.9900
5:131180167:GG:G	donor_gain	0.9900
5:131182228:GCAGC:G	acceptor_gain	0.9900
5:131182295:AAGAG:A	donor_loss	0.9900
5:131182297:GAG:G	donor_gain	0.9900
5:131182297:GAGG:G	donor_loss	0.9900
5:131182298:AGGT:A	donor_loss	0.9900
5:131182299:GGTAC:G	donor_loss	0.9900
5:131182300:G:A	donor_loss	0.9900
5:131182301:T:G	donor_loss	0.9900
5:131182304:A:AG	donor_gain	0.9900
5:131182305:G:GG	donor_gain	0.9900

AlphaMissense

682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:131182255:T:C	F40L	0.992
5:131182257:C:A	F40L	0.992
5:131182257:C:G	F40L	0.992
5:131187074:T:A	V70D	0.988
5:131180140:T:C	F22L	0.987
5:131180141:T:C	F22S	0.987
5:131180142:T:A	F22L	0.987
5:131180142:T:G	F22L	0.987
5:131182256:T:C	F40S	0.984
5:131180119:C:G	H15D	0.981
5:131182231:G:C	A32P	0.981
5:131182232:C:A	A32D	0.977
5:131182244:T:A	I36K	0.977
5:131187062:T:C	L66P	0.976
5:131180117:T:C	L14P	0.974
5:131180140:T:G	F22V	0.968
5:131180167:G:C	A31P	0.968
5:131180107:T:C	F11L	0.965
5:131180109:T:A	F11L	0.965
5:131180109:T:G	F11L	0.965
5:131180140:T:A	F22I	0.965
5:131182244:T:G	I36R	0.964
5:131187029:T:C	L55P	0.964
5:131187041:G:A	G59D	0.963
5:131187083:G:A	G73D	0.960
5:131180112:A:C	K12N	0.958
5:131180112:A:T	K12N	0.958
5:131187082:G:C	G73R	0.957
5:131180141:T:G	F22C	0.956
5:131180138:T:A	V21D	0.955

dbSNP variants (sampled 300 via entrez): RS1000098872 (5:131193640 A>C,G), RS1000111694 (5:131169720 T>C), RS1000148317 (5:131176239 A>G), RS1000151215 (5:131193360 T>C), RS1000166533 (5:131201111 C>T), RS1000268857 (5:131183406 A>G), RS1000301608 (5:131182993 A>C,G), RS1000380700 (5:131189995 A>C,T), RS1000526860 (5:131189438 G>A,T), RS1000559985 (5:131196395 C>T), RS1000582311 (5:131176039 C>G,T), RS1000589688 (5:131196197 G>A), RS1000660438 (5:131205392 T>C), RS1000712365 (5:131205146 C>A), RS1000814767 (5:131189619 C>G)

Disease associations

OMIM: gene MIM:615831 | disease phenotypes: MIM:615838, MIM:124000

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex III deficiency nuclear type 8	Strong	Autosomal recessive
mitochondrial disease	Strong	Autosomal recessive
mitochondrial complex III deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (4): mitochondrial complex III deficiency nuclear type 8 (MONDO:0014364), mitochondrial complex III deficiency nuclear type 1 (MONDO:0007415), mitochondrial complex III deficiency (MONDO:0015448), mitochondrial disease (MONDO:0044970)

Orphanet (1): Renal tubulopathy-encephalopathy-liver failure syndrome (Orphanet:254902)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000543	Optic disc pallor
HP:0000544	External ophthalmoplegia
HP:0000577	Exotropia
HP:0000639	Nystagmus
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001259	Coma
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001285	Spastic tetraparesis
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001348	Brisk reflexes
HP:0001508	Failure to thrive
HP:0001903	Anemia
HP:0002059	Cerebral atrophy
HP:0002151	Increased circulating lactate concentration
HP:0002283	Global brain atrophy
HP:0002376	Developmental regression
HP:0002490	Increased CSF lactate
HP:0002505	Loss of ambulation
HP:0002518	Abnormal periventricular white matter morphology

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004131_32	Inflammatory bowel disease	4.000000e-27
GCST004132_10	Crohn’s disease	6.000000e-36
GCST004133_36	Ulcerative colitis	2.000000e-06
GCST010701_41	Cortical surface area (MOSTest)	1.000000e-20
GCST010702_96	Subcortical volume (MOSTest)	2.000000e-08
GCST010703_160	Brain morphology (MOSTest)	3.000000e-09
GCST012047_19	Fasting glucose	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565128	Mitochondrial Complex III Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects expression, decreases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, affects cotreatment	1
lead acetate	affects cotreatment, decreases expression	1
2-butenal	decreases expression	1
zinc protoporphyrin	decreases expression, affects cotreatment	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Folic Acid	decreases expression	1
Indomethacin	increases expression, affects cotreatment	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

103 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
NCT06051448	PHASE1/PHASE2	COMPLETED	Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
NCT01252979	EARLY_PHASE1	COMPLETED	Ketones & Mitochondrial Heteroplasmy
NCT00786539	Not specified	COMPLETED	Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
NCT00829270	Not specified	COMPLETED	Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
NCT00831948	Not specified	UNKNOWN	Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
NCT01001585	Not specified	TERMINATED	Anesthetic Effects in Mitochondrial Disease
NCT01148550	Not specified	SUSPENDED	Longitudinal Study of Mitochondrial Hepatopathies